Hs02143915_cn

• Gene Symbol: C17orf49
• Assay Reference Genome Location: Chr.17:7017349 on build GRCh38
• Cytoband: 17p13.1

Target Gene Details

• Entrez Gene ID: 124944
• Gene Name: chromosome 17 open reading frame 49
• Gene Aliases: BAP18, HEPIS
• Location: Chr.17:7014737-7017524 on Build GRCh38
• Assay Gene Location: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C17orf49	NM_001142798.2	6	728	NP_001136270.1
	NM_001142799.2	5	622	NP_001136271.1
	NM_174893.3	6	724	NP_777553.1
	AI183273.1	1	186
	AK055800.1	3	2167
	AK295795.1	6	679
	BC040036.1	6	656	AAH40036.1
	BM011108.1	6	692
	BU596784.1
	BU730728.1	1	189
	CA449884.1	1	194
	CN280697.1	5	590

Target Gene Details

• Entrez Gene ID: 100506755
• Gene Name: mir-497-195 cluster host gene
• Gene Aliases: MIR195HG
• Location: Chr.17:7015818-7019654 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIR497HG	NR_038310.1

Target Gene Details

• Entrez Gene ID: 100529209
• Gene Name: RNASEK-C17orf49 readthrough
• Gene Aliases: -
• Location: Chr.17:7012417-7017524 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RNASEK-C17orf49	NR_037717.1	8	1734
	BC040148.1	8	1491	AAH40148.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2422288	Chr.17:6789933 - 7646709 on Build GRCh38	Deletion	ALOX12P2 GPS2 TMEM95 ELP5 SPEM1 TNFSF12 TMEM256-PLSCR3 CD68 CHRNB1 GABARAP ATP1B2 FXR2 MIR324 TNFSF13 SENP3-EIF4A1 PHF23 TNK1 CTDNEP1 NLGN2 SLC2A4 SHBG EIF5A ACADVL MPDU1 SOX15 SENP3 ASGR2 SAT2 SNORD10 MIR195 DVL2 SLC35G6 POLR2A SLC16A13 ASGR1 C17orf49 RNASEK-C17orf49 FBXO39 DLG4 LOC100996842 CLDN7 SLC16A11 BCL6B MIR497 TMEM102 ZBTB4 EIF4A1 C17orf74 FGF11 CLEC10A SNORA67 KCTD11 YBX2 TEKT1 TNFSF12-TNFSF13 PLSCR3 NEURL4 ALOX12-AS1 ACAP1 TMEM256 ALOX12 SNORA48 MIR497HG RNASEK LOC107983988
nsv952117	Chr.17:7014482 - 7028381 on Build GRCh38	Deletion	MIR195 BCL6B MIR497 C17orf49 RNASEK-C17orf49 MIR497HG RNASEK
nsv574322	Chr.17:7010333 - 7689462 on Build GRCh38	Loss	GPS2 TMEM95 ELP5 SPEM1 TNFSF12 TMEM256-PLSCR3 CD68 CHRNB1 GABARAP ATP1B2 FXR2 MIR324 TNFSF13 SENP3-EIF4A1 PHF23 TNK1 CTDNEP1 NLGN2 SLC2A4 SHBG EIF5A ACADVL MPDU1 SOX15 SENP3 ASGR2 SAT2 SNORD10 MIR195 WRAP53 DVL2 SLC35G6 POLR2A SLC16A13 ASGR1 C17orf49 RNASEK-C17orf49 DLG4 LOC100996842 CLDN7 SLC16A11 BCL6B MIR497 TMEM102 ZBTB4 EIF4A1 C17orf74 FGF11 CLEC10A SNORA67 KCTD11 YBX2 TNFSF12-TNFSF13 PLSCR3 TP53 NEURL4 ALOX12-AS1 ACAP1 TMEM256 ALOX12 SNORA48 MIR497HG RNASEK LOC107983988

More Information

• Set Membership: Intragenic, Exonic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

chromatin/chromatin-binding, or -regulatory protein

Gene Ontology Categories:

Process(es)

covalent chromatin modification

Function(s)

DNA binding